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目的探讨对超声诊断结构异常胎儿进行脐血染色体核型分析的意义。方法选择我院因产前超声诊断胎儿结构异常而自愿行介入性产前诊断的孕妇176例,行脐静脉穿刺,分析脐血细胞染色体核型。结果脐静脉穿刺成功率为98.86%,脐血细胞培养率为100%。确诊染色体异常胎儿18例(10.23%),其中21-三体综合征6例,18-三体综合征7例,13-三体综合征2例,Turner综合征1例,三体征1例,染色体易位1例。结论对超声诊断结构异常胎儿进行介入性产前诊断,可以明确是否为染色体异常疾病,有重要的临床意义;脐静脉穿刺因其对母儿风险小,操作简便,且不受妊娠时间的限制而具有重要意义。
Objective To explore the significance of umbilical blood karyotype analysis in fetus with abnormal ultrasound diagnosis. Methods A total of 176 pregnant women with prenatal diagnosis of prenatal diagnosis of prenatal ultrasound were selected as volunteers in our hospital. Umbilical vein puncture was performed to analyze the karyotype of cord blood cells. Results The successful rate of umbilical vein puncture was 98.86% and the rate of cord blood cell culture was 100%. Twenty-eight cases (10.23%) were diagnosed as chromosomal abnormalities, including 21 cases of trisomy syndrome, 7 cases of trisomy syndrome, 2 cases of trisomy syndrome, 1 case of Turner’s syndrome, 1 case of trisomy, Chromosome translocation in 1 case. Conclusions Interventional prenatal diagnosis of fetuses with structural abnormalities in ultrasound diagnosis can be used to confirm whether it is a chromosomal abnormality or not and has important clinical significance. Umbilical vein puncture is easy to operate because of its low risk to the mother and child, and is not limited by the time of pregnancy It is of great significance.